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Table 4 Germ line BRCA2 pathogenic mutations in breast and ovarian cancer families from Asturias

From: Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain)

Exon

BIC nomenclature

HGVS nomenclature

Predicted effect

N families

Families origen

Comments

3

 

c.262_263delCT

p.Leu88Alafs

1

Andalucía

Novel

10

2041insA

c.1813dupA

p.Ile605Asnfs

2

Asturias

Worldwide

11

 

c.2095 C>T

p.Gln699*

3

Asturias

Novel

11

3058A>T

c.2830A>T

p.Lys944*

1

Dominican Republic

Worldwide

11

 

c.3263dupC

p.Gln1089Serfs

1

Albacete

Novel

11

 

c.4030_4035delinsC

p.Asn1344Hisfs

6

Asturias

Novel

11

4859insA

c.4631dupA

p.Asn1544Lysfs

1

Asturias

Europe

11

5344del4

c.5116_5119delAATA

p.Asn1706Leufs

1

Castilla/León

Castilla/León, Founder

11

5804del4

c.5576_5579delTTAA

p.Ile1859Lysfs

1

País Vasco

País Vasco

18

 

c.8042_8043delCA

p.Thr2681Serfs

1

Andalucía

Novel

23

9254del5

c.9026_9030delATCAT

p.Tyr3009Serfs

1

Cantabria

Cataluña, Founder

25

9538delAA

c.9310_9311delAA

p.Lys3104Valfs

1

Castilla/León

Castilla/León, Founder